regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPSE2_chr10_98452077_99240852 | 98574796 | ACACTGTT others(10): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 142 | 0.0070 | -17 | c.132 others(38): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99072927 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0034others(49): Show | 52 | 142 | 0.3662 | -17 | c.610 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG03490.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0001g0055a0001c0001t0008g0004a0001c0001t0014g0001others(3): Show | 6 | 142 | 0.0423 | -17 | c.449 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99176378 | AAGGTTAG others(10): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 142 | 0.0070 | -17 | c.449 others(36): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE_chr4_83287461_83339848 | 83325169 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 320 | 0.0031 | -17 | c.228 others(34): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
HRG_chr3_186661014_186683234 | 186681649 | GCACAGGA others(10): Show |
G | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0020 | 1 | 472 | 0.0021 | -17 | c.*37 others(28): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 3416 | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11168286 | GGGCACTG others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0173 | 1 | 352 | 0.0028 | -17 | c.-36 others(36): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HRH2_chr5_175653071_175715756 | 175706281 | CTTAATGC others(10): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0119 | 1 | 264 | 0.0038 | -17 | c.107 others(36): Show |
HRH2 | ENSG00000113749.8 | transcript | ENST00000636584.2 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62212987 | GGGGAGGG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0004t0001g0013 | 4 | 368 | 0.0109 | -17 | c.*30 others(28): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1972 | chr20 | TogoVar | ||||||
HRH4_chr18_24455637_24484961 | 24458947 | CTCTTTTA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0043 | 1 | 424 | 0.0024 | -17 | c.-17 others(28): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 1689 | chr18 | TogoVar | ||||||
HS1BP3_chr2_20612818_20656098 | 20631516 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02145.hp1 HG06807.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0013a0003c0004others(1): Show | a0001c0003t0004a0001c0013t0004a0003c0004t0002others(2): Show | a0001c0003t0004g0281a0001c0003t0004g0290a0001c0013t0004g0305others(3): Show | 6 | 404 | 0.0149 | -17 | c.624 others(34): Show |
HS1BP3 | ENSG00000118960.13 | transcript | ENST00000304031.8 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
HS1BP3_chr2_20612818_20656098 | 20636287 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03195.hp1 others(6): Show |
a0004a0007 | a0004c0007a0007c0022 | a0004c0007t0003a0007c0022t0003 | a0004c0007t0003g0053a0004c0007t0003g0091a0004c0007t0003g0096others(6): Show | 9 | 404 | 0.0223 | -17 | c.623 others(34): Show |
HS1BP3 | ENSG00000118960.13 | transcript | ENST00000304031.8 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25820010 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0135 | 1 | 164 | 0.0061 | -17 | c.734 others(38): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST5_chr6_114050596_114348023 | 114161558 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 206 | 0.0049 | -17 | c.-33 others(34): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114255715 | GGCTTGGG others(10): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0024 | a0001c0001t0005g0083a0001c0001t0011g0047a0001c0001t0024g0002 | 3 | 206 | 0.0146 | -17 | c.-33 others(38): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96118672 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0044 | 1 | 116 | 0.0086 | -17 | c.707 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96118688 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0080 | 1 | 116 | 0.0086 | -17 | c.707 others(36): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96254437 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 116 | 0.0086 | -17 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96254441 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 116 | 0.0086 | -17 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96254449 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0107 | 1 | 116 | 0.0086 | -17 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96317351 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG06807.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024 | a0001c0001t0008g0062a0001c0001t0024g0060 | 2 | 116 | 0.0172 | -17 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96317356 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0003g0050 | 2 | 116 | 0.0172 | -17 | c.707 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96668686 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0024others(3): Show | 6 | 116 | 0.0517 | -17 | c.708 others(38): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSD17B11_chr4_87331515_87396188 | 87380037 | GGAGGCGG others(10): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0005a0001c0002t0011a0001c0003t0002others(4): Show | a0001c0002t0005g0153a0001c0002t0011g0150a0001c0002t0011g0151others(11): Show | 14 | 390 | 0.0359 | -17 | c.318 others(34): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690387 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 280 | 0.0036 | -17 | c.160 others(34): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87308485 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG03492.hp2 NA18961.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0001c0001t0010a0006c0008t0001 | a0001c0001t0002g0334a0001c0001t0010g0259a0006c0008t0001g0082 | 3 | 442 | 0.0068 | -17 | c.812 others(34): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02572.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0037others(10): Show | 13 | 374 | 0.0348 | -17 | c.202 others(32): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B4_chr5_119447497_119547332 | 119462248 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0009 | a0009c0012 | a0009c0012t0012 | a0009c0012t0012g0374 | 1 | 380 | 0.0026 | -17 | c.112 others(34): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B4_chr5_119447497_119547332 | 119500332 | ATATACAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0366a0003c0003t0003g0367 | 2 | 380 | 0.0053 | -17 | c.120 others(34): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B4_chr5_119447497_119547332 | 119530854 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0009 | a0009c0012 | a0009c0012t0012 | a0009c0012t0012g0374 | 1 | 380 | 0.0026 | -17 | c.185 others(34): Show |
HSD17B4 | ENSG00000133835.18 | transcript | ENST00000510025.7 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSD17B6_chr12_56758324_56792790 | 56788411 | ACCCCCCA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 360 | 0.0028 | -17 | c.*10 others(28): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 622 | chr12 | TogoVar | ||||||
HSD3B1_chr1_119502210_119520054 | 119509525 | TGAAGTGG others(10): Show |
T | intron_variant | MODIFIER | NA18957.hp2 NA18988.hp2 NA18994.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0071 | 5 | 410 | 0.0122 | -17 | c.145 others(34): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD3B1_chr1_119502210_119520054 | 119510712 | GTTTTCTT others(10): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03516.hp1 NA19240.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0029 | 3 | 410 | 0.0073 | -17 | c.146 others(32): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD3B1_chr1_119502210_119520054 | 119510717 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 410 | 0.0024 | -17 | c.146 others(32): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSDL2_chr9_112375108_112477405 | 112425604 | CCTTTGAG others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0013others(146): Show | 154 | 366 | 0.4208 | -17 | c.598 others(34): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HSPA4_chr5_133047013_133111449 | 133106101 | AATTTTTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02622.hp1 others(3): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0003a0001c0001t0063a0008c0013t0003 | a0001c0001t0003g0126a0001c0001t0003g0127a0001c0001t0003g0131others(3): Show | 6 | 364 | 0.0165 | -17 | c.*16 others(28): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1666 | chr5 | TogoVar | |||||
HSPB9_chr17_42117804_42128352 | 42126631 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 334 | 0.0030 | -17 | c.*33 others(28): Show |
HSPB9 | ENSG00000260325.2 | transcript | ENST00000565659.2 | protein_coding | 3280 | chr17 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21927214 | GATGGGGA others(10): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp2 others(10): Show |
a0005a0018a0021others(6): Show | a0005c0023a0005c0043a0005c0092others(8): Show | a0005c0023t0001a0005c0043t0001a0005c0092t0001others(8): Show | a0005c0023t0001g0098a0005c0023t0001g0099a0005c0043t0001g0100others(10): Show | 13 | 310 | 0.0419 | -17 | c.63+ others(32): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 1/96 | chr1 | TogoVar | ||||||
HTATIP2_chr11_20358714_20388782 | 20361387 | ATATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 420 | 0.0024 | -17 | c.-28 others(28): Show |
HTATIP2 | ENSG00000109854.14 | transcript | ENST00000451739.7 | protein_coding | 2326 | chr11 | TogoVar | ||||||
HTR1D_chr1_23186895_23222502 | 23199415 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0037 | 2 | 356 | 0.0056 | -17 | c.-78 others(36): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
HTR1E_chr6_86932528_87021679 | 86995671 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0059a0001c0001t0001g0067others(56): Show | 61 | 300 | 0.2033 | -17 | c.-18 others(38): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87979025 | AGGGAGGG others(10): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 250 | 0.0040 | -17 | c.-42 others(36): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87987712 | ATATGTAT others(10): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224 | 1 | 250 | 0.0040 | -17 | c.-42 others(34): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114855746 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0140 | 1 | 176 | 0.0057 | -17 | c.550 others(34): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR7_chr10_90735823_90863039 | 90844725 | TCAAAAAA others(10): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0346 | 1 | 404 | 0.0025 | -17 | c.539 others(36): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122501961 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01175.hp1 NA19043.hp2 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0046a0001c0001t0001g0048a0003c0006t0001g0317 | 3 | 362 | 0.0083 | -17 | c.778 others(34): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3074307 | ACCACGCC others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG03017.hp1 |
a0084a0088 | a0084c0115a0088c0120 | a0084c0115t0017a0088c0120t0017 | a0084c0115t0017g0202a0088c0120t0017g0201 | 2 | 294 | 0.0068 | -17 | c.-51 others(26): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 373 | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3138164 | TTTCCCTT others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01109.hp1 others(19): Show |
a0007a0010a0020others(7): Show | a0007c0007a0007c0058a0010c0009others(10): Show | a0007c0007t0003a0007c0058t0033a0010c0009t0003others(10): Show | a0007c0007t0003g0023a0007c0007t0003g0024a0007c0007t0003g0025others(19): Show | 22 | 294 | 0.0748 | -17 | c.279 others(36): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 21/66 | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3229073 | CCCCACAC others(10): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18956.hp1 NA18961.hp2 others(4): Show |
a0005a0076a0081 | a0005c0004a0076c0101a0081c0109 | a0005c0004t0002a0076c0101t0002a0081c0109t0002 | a0005c0004t0002g0209a0005c0004t0002g0228a0005c0004t0002g0230others(4): Show | 7 | 294 | 0.0238 | -17 | c.810 others(32): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 59/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3229261 | CCACACAC others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(103): Show |
a0002a0003a0005others(36): Show | a0002c0001a0002c0030a0002c0031others(40): Show | a0002c0001t0002a0002c0001t0013a0002c0001t0014others(47): Show | a0002c0001t0002g0191a0002c0001t0002g0193a0002c0001t0002g0196others(103): Show | 106 | 294 | 0.3605 | -17 | c.810 others(34): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 59/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |